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GENE - TERM ANNOTATION REPORT

CRRD ID: 1604786
Species: Homo sapiens
CRRD Object: Gene
Symbol: CEP290
Name: centrosomal protein 290
Acc ID: DOID:0111000
Term: Joubert syndrome 5
Definition: A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16682973
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 7240710OMIM  
 IAGP 7246903CRRDDNA:deletions, insertion: :multiple

 
 IAGP 11537352CRRDDNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple

 
 IAGPRGD:100480808554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17345604
 IAGPRGD:100486618554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:21068128
 IAGPRGD:100488228554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17345604
 IAGPRGD:100512638554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868
 IAGPRGD:104486848554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104486928554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869, PMID:28492532
 IAGPRGD:104486988554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487058554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868, PMID:26092869
 IAGPRGD:104487128554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487208554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487238554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487248554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487268554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869, PMID:28492532
 IAGPRGD:104487348554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487478554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868, PMID:26092869
 IAGPRGD:104487578554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868, PMID:26092869
 IAGPRGD:104487598554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868, PMID:26092869
 IAGPRGD:104487608554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487668554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487698554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487798554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487918554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487928554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:104487988554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868, PMID:26092869
 IAGPRGD:104488008554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26047050, PMID:26092869, PMID:27491411, PMID:28492532
 IAGPRGD:115820518554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868
 IAGPRGD:116234018554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868, PMID:28492532
 IAGPRGD:116325278554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

 
 IAGPRGD:116325938554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

 
 IAGPRGD:116335908554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

 
 IAGPRGD:116336958554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868, PMID:28492532
 IAGPRGD:116337478554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

 
 IAGPRGD:116339598554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

 
 IAGPRGD:127407888554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868
 IAGPRGD:128590228554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868
 IAGPRGD:134355238554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

 
 IAGPRGD:134710518554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868
 IAGPRGD:136109298554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:21153841, PMID:23351400, PMID:25741868, PMID:26047050
 IAGPRGD:138071018554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17409309, PMID:25741868
 IAGPRGD:146956688554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868
 IAGPRGD:146956788554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:25741868
 IAGPRGD:85561288554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:16682973
 IAGPRGD:85911328554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17564967, PMID:25741868, PMID:28492532
 IAGPRGD:85911398554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:16682973, PMID:17345604, PMID:18414213, PMID:21245082, PMID:22355252, PMID:25920555, PMID:26092869, PMID:28492532
 IAGPRGD:85953778554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:16682970, PMID:16682973, PMID:17564967, PMID:18414213, PMID:25741868, PMID:26092869, PMID:28492532
 IAGPRGD:85953788554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:16682970, PMID:26092869, PMID:28041643
 IAGPRGD:85953798554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:23344081, PMID:25741868, PMID:28492532
 IAGPRGD:85953818554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17564967, PMID:25741868, PMID:26092869
 IAGPRGD:85953838554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:18327255, PMID:26092869
 IAGPRGD:86174578554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17564974, PMID:19466712, PMID:25741868, PMID:26092869
 IAGPRGD:86174618554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17564974, PMID:19466712, PMID:19764032, PMID:26092869, PMID:28492532
 IAGPRGD:86174668554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17345604, PMID:17564974, PMID:21602930, PMID:23027964, PMID:25741868, PMID:28492532, PMID:29398085
 IAGPRGD:86174678554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:21245082, PMID:25741868, PMID:28041643
 IAGPRGD:95893238554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:96927748554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

PMID:26092869
 IAGPRGD:96927808554872ClinVarClinVar Annotator: match by term: Joubert syndrome 5

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.